Alexandra, the only child in Spain with an incurable syndrome that accelerates the aging process

At eight years old, Alexandra Peraut is a happy, bright child who speaks five languages, is learning to play the piano and violin, dances and sings songs by Shakira and Rosalía, devours the books in the Isadora Moon series and has taken up horse-riding.

Alexandra has a vitality that is contagious to her parents Esther and Cédric, and although her life resembles that of another child her age, she is no ordinary child, but one of twenty million, as she suffers from an extremely rare disease that causes her to live accelerated aging and was diagnosed when she was two years old.

Alexandra lives with Hutchinson-Gilford Syndrome (popularly known as Progeria), a genetic condition that has no cure and has a life expectancy of around 14 to 15 years. There are only 154 children with this disease worldwide and Alexandra is the only case in Spain.

To raise awareness of the disease and promote biomedical research to find a cure and improve the quality of life of affected children, Alexandra’s parents founded the Asociación Progeria Alexandra Peraut in 2019, which has helped many families in Spanish-speaking countries.

Progeria hit the headlines last week with the death of Italian scientist Sammy Basso, the world’s longest-living person with Hutchinson-Gilford syndrome. He earned a degree in molecular biology because he wanted to research his own genetic disorder and defied medical expectations by achieving an admirable quality of life and mind at age 28.

Although they did not know each other personally, Alexandra and her parents (Esther Martínez, 54, from Barcelona, ​​​​and Cédric Peraut, 55, from France) had many conversations with Basso since Carlos López Otín, one of the leading experts on aging them in contact. “Sammy was an incredible person and a reference point for us,” they say.

School at home

The Peraut family moved a few months ago from Barcelona to Puigcerdá (Girona), a mountain village in the Catalan Pyrenees. The change has been very beneficial for Alexandra because, like all children with progeria, she needs to pay particular attention to her cardiovascular health, which is regularly checked by the Sant Joan de Déu Hospital in Barcelona, ​​​​an international reference in pediatrics.

“The change has done her a lot of good, here we are at 1,200 meters altitude, with fresh air and now her red blood cells are at full strength,” says Esther optimistically, but is aware that this is not the case with many complications of the disease is manifested because her daughter is still small.

Esther, who works in digital marketing, which allows her to work remotely, and Cédric, who is an osteopath and can treat her daughter, try to live each day to the fullest without allowing sadness to take over everything “What must come” destroys her daughter’s happiness. That’s why they dedicate this golden time to creating beautiful moments, “because in the end it’s the ones that stay in your memory.” They all conspire to normalize progeria so that it doesn’t affect the existence of their only daughter.

Until last year, Alexandra attended an international school in San Cugat del Vallés, Barcelona, ​​where she also learned English and Chinese in addition to the Spanish, Catalan and French she learned at home. This year she is teaching at home as part of the French education system, as the Spanish system does not regulate this method.

“At this age they are sponges for learning languages, which is nothing special for children with progeria,” says Esther, who certainly links the vitality they radiate with the syndrome. “They are children who have great joy in life, who are very curious about everything and who love to learn. Alexandra loves books, music, dance… at school she did ballet, but where we live now we haven’t found “yet a dance academy”. But Alexandra has discovered an activity that has stolen her heart: equine therapy . “Now she just wants to hear about horses and as long as her condition allows it, she loves riding.”

Although Alexandra is physically healthy, she takes aspirin (acetylsalicylic acid) daily to prevent blood clots, and her mother lubricates her eyes every night because they become dry if she cannot close them. Additionally, because she has virtually no body fat, she becomes tired after running for a while, and her fragile bones limit her ability to bend her joints.

However, none of this stops her from playing with Àuria, Laia and Manuela, some of her best friends from school who she can no longer see as regularly. Alexandra comes in, goes out, socializes, laughs and has fun like any other child her age. In short, she normalizes her illness, which is reflected in “Una niña entre vente millones” (A Girl in 20 Million, 14 Euros), the book written about her by the journalist Quim Miró, which has sold more than two thousand copies and its profits were donated to various research projects on progeria, including that of Dr. Vicente Andrés at the Centro Nacional de Investigaciones Cardioculares (CNIC).

Esther says that Alexandra is aware of her rare condition, “although there are other things that we will explain to her,” and that when she arrives at a place where there are children who do not know her, she When asked why she doesn’t have any hair, she answers firmly and without complexes: “Because I have an illness.” A big step towards making progeria more visible.

The other step, extending life expectancy, is something different. Research on mice, clinical trials on humans, a laboratory that dares to allocate money to develop a drug for just 154 children… “We know it is a long process. Do we have hope that a drug will come? Yes. Will.” Do you see it, Alexandra? Probably not. Time flies, but there is still a lot of life ahead of her, full of “beautiful and bright moments”.